C295L_MOUSE
ID C295L_MOUSE Reviewed; 533 AA.
AC Q497N6; P97320;
DT 01-MAY-2013, integrated into UniProtKB/Swiss-Prot.
DT 13-SEP-2005, sequence version 1.
DT 03-AUG-2022, entry version 105.
DE RecName: Full=CEP295 N-terminal-like protein {ECO:0000305};
DE AltName: Full=Differential display clone 8 {ECO:0000303|PubMed:9237247};
DE AltName: Full=KIAA1731 N-terminal like protein {ECO:0000250|UniProtKB:Q96MC4};
GN Name=Cep295nl {ECO:0000250|UniProtKB:Q96MC4};
GN Synonyms=Ddc8 {ECO:0000312|EMBL:CAA71005.1},
GN Kiaa1731nl {ECO:0000250|UniProtKB:Q96MC4};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND DEVELOPMENTAL STAGE.
RX PubMed=9237247; DOI=10.1093/molehr/3.3.215;
RA Catalano R.D., Vlad M., Kennedy R.C.;
RT "Differential display to identify and isolate novel genes expressed during
RT spermatogenesis.";
RL Mol. Hum. Reprod. 3:215-221(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Testis;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, AND INDUCTION BY INJURY.
RX PubMed=16985004; DOI=10.1152/physiolgenomics.00160.2006;
RA Jaworski D.M., Beem-Miller M., Lluri G., Barrantes-Reynolds R.;
RT "Potential regulatory relationship between the nested gene DDC8 and its
RT host gene tissue inhibitor of metalloproteinase-2.";
RL Physiol. Genomics 28:168-178(2007).
RN [6]
RP SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX PubMed=19706271; DOI=10.1016/j.bbrc.2009.08.053;
RA Shi Y.Q., Li Y.C., Hu X.Q., Liu T., Liao S.Y., Guo J., Huang L., Hu Z.Y.,
RA Tang A.Y., Lee K.F., Yeung W.S., Han C.S., Liu Y.X.;
RT "Male germ cell-specific protein Trs4 binds to multiple proteins.";
RL Biochem. Biophys. Res. Commun. 388:583-588(2009).
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium
CC {ECO:0000269|PubMed:19706271}. Note=Colocalizes to the motile cilium of
CC mature spermatozoa.
CC -!- TISSUE SPECIFICITY: Expressed in mature spermatozoa (at protein level).
CC Detected in retina, lung and kidney. In brain, highly expressed in
CC brain-stem, cerebral cortex and thalamus with lesser expression in
CC cerebellum and hippocampus. {ECO:0000269|PubMed:16985004,
CC ECO:0000269|PubMed:19706271}.
CC -!- DEVELOPMENTAL STAGE: Expressed during the postmeiotic stages of
CC spermatogenesis. Detected at least at 14 dpc, the expression being
CC enriched in kidney and small intestine. Within the nervous system,
CC expression is prominent in the most superficial layers of the posterior
CC cerebral cortex at 14 dpc and retina at 18 dpc. Expression is enriched
CC in the posterior cerebral cortex at birth and declines at 7 days after
CC birth. {ECO:0000269|PubMed:16985004, ECO:0000269|PubMed:19706271,
CC ECO:0000269|PubMed:9237247}.
CC -!- INDUCTION: Expression is moderately up-regulated 2 days after
CC intracranial injury and increases at 4 and 7 days post-injury.
CC {ECO:0000269|PubMed:16985004}.
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DR EMBL; Y09878; CAA71005.1; -; mRNA.
DR EMBL; AK132657; BAE21285.1; -; mRNA.
DR EMBL; AL591404; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC100451; AAI00452.1; -; mRNA.
DR CCDS; CCDS25700.1; -.
DR RefSeq; NP_067415.2; NM_021440.2.
DR RefSeq; XP_006533923.1; XM_006533860.3.
DR RefSeq; XP_011247468.1; XM_011249166.2.
DR AlphaFoldDB; Q497N6; -.
DR BioGRID; 208421; 1.
DR STRING; 10090.ENSMUSP00000099313; -.
DR iPTMnet; Q497N6; -.
DR PhosphoSitePlus; Q497N6; -.
DR PaxDb; Q497N6; -.
DR PRIDE; Q497N6; -.
DR ProteomicsDB; 265462; -.
DR Antibodypedia; 32615; 16 antibodies from 6 providers.
DR DNASU; 58251; -.
DR Ensembl; ENSMUST00000103024; ENSMUSP00000099313; ENSMUSG00000076433.
DR Ensembl; ENSMUST00000168100; ENSMUSP00000128122; ENSMUSG00000076433.
DR GeneID; 58251; -.
DR KEGG; mmu:58251; -.
DR UCSC; uc007mox.2; mouse.
DR CTD; 100653515; -.
DR MGI; MGI:1929713; Cep295nl.
DR VEuPathDB; HostDB:ENSMUSG00000076433; -.
DR eggNOG; ENOG502QSZR; Eukaryota.
DR GeneTree; ENSGT00940000153123; -.
DR HOGENOM; CLU_447551_0_0_1; -.
DR InParanoid; Q497N6; -.
DR OMA; WHSQMIR; -.
DR OrthoDB; 97863at2759; -.
DR PhylomeDB; Q497N6; -.
DR BioGRID-ORCS; 58251; 5 hits in 71 CRISPR screens.
DR PRO; PR:Q497N6; -.
DR Proteomes; UP000000589; Chromosome 11.
DR RNAct; Q497N6; protein.
DR Bgee; ENSMUSG00000076433; Expressed in seminiferous tubule of testis and 42 other tissues.
DR Genevisible; Q497N6; MM.
DR GO; GO:0005814; C:centriole; IBA:GO_Central.
DR GO; GO:0005813; C:centrosome; IBA:GO_Central.
DR GO; GO:0005829; C:cytosol; IBA:GO_Central.
DR GO; GO:0031514; C:motile cilium; IDA:MGI.
DR GO; GO:0008017; F:microtubule binding; IBA:GO_Central.
DR GO; GO:0030414; F:peptidase inhibitor activity; ISO:MGI.
DR GO; GO:0002020; F:protease binding; ISO:MGI.
DR GO; GO:0008270; F:zinc ion binding; ISO:MGI.
DR GO; GO:0046599; P:regulation of centriole replication; IBA:GO_Central.
PE 1: Evidence at protein level;
KW Cell projection; Cilium; Coiled coil; Reference proteome.
FT CHAIN 1..533
FT /note="CEP295 N-terminal-like protein"
FT /id="PRO_0000422184"
FT REGION 1..40
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 84..176
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 286..333
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 370..399
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 40..72
FT /evidence="ECO:0000255"
FT COILED 416..531
FT /evidence="ECO:0000255"
FT COMPBIAS 95..124
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 136..172
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 305..320
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 17
FT /note="D -> N (in Ref. 1; CAA71005)"
FT /evidence="ECO:0000305"
FT CONFLICT 85
FT /note="S -> T (in Ref. 1; CAA71005)"
FT /evidence="ECO:0000305"
FT CONFLICT 91
FT /note="S -> R (in Ref. 1; CAA71005)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 533 AA; 61957 MW; D5AE41B98F6F46EB CRC64;
MQRDTERAAQ LSPSSEDEAL VLRQKPLEMP AQEEDSTTLQ QWKARQLQRL AEELKAEWQE
ARLQQVRQAE RLYLSHLLDE AAERSMGNDP SVHEQNQRRT AKHTRAKERN RAAFREERGR
REEHPRQHPK SRKKAPCSER RSSAKARGPA SGEKGKRRRV SSSKDHDGYQ GPRVTRRVGV
AKLNPFFDGD TDCMEDVQKE FFREGRRPSA KGTHNLRDQS LQGKTTALTQ PLLHGPTCKQ
EAAAQEPPSK YNKNLWHKEI ESTFEELFNM NRKLKKHLNL HLEQRLKADQ NPDEQQSYSE
IRSETFGTPR EERTEEVETA EESGSPTEVE TTEMWSKVNL KQILSDSEYP RYQQIAKYPL
KSESLVPVKA GTSREQDDLL SLSPESGQEP PKSPLLEDES LKPYLQKQAD SVASWMALRQ
KQKAELEQRR QKALLELTEH PNMSLEIHYK AELEEERRAR RRMRLALLKS NSTGICALPP
DRNNLSLDNG LLDEDKQNQM IRDLQQQILE QNKLHQEFLE KARKRLQEFQ KSF